Canonical Allele Identifier: CA1948006221
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2167110C= , CM000673.2:g.2167110C= GRCh38
NC_000011.9:g.2188340C= , CM000673.1:g.2188340C= GRCh37
NC_000011.8:g.2144916C= NCBI36
NG_008128.1:g.9696G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.696-78G= MANE Select ENSP00000325951.4:n.696-78G=
ENST00000324155.8:c.*385-78G= ENSP00000325831.3:n.*385-78G=
ENST00000333684.9:c.695+325G= ENSP00000328814.6:n.695+325G=
ENST00000352909.7:c.696-78G= ENSP00000325951.3:n.696-78G=
ENST00000381168.7:c.*416-78G= ENSP00000370560.3:n.*416-78G=
ENST00000381175.5:c.777-78G= ENSP00000370567.1:n.777-78G=
ENST00000381178.5:c.789-78G= ENSP00000370571.1:n.789-78G=
ENST00000412076.1:c.135+325G=
ENST00000416223.5:c.135+325G=
ENST00000469226.1:n.825-78G=
ENST00000479437.5:n.167G=
NM_000360.3:c.696-78G= NP_000351.2:n.696-78G=
NM_199292.2:c.789-78G= NP_954986.2:n.789-78G=
NM_199293.2:c.777-78G= NP_954987.2:n.777-78G=
XM_011520335.1:c.708-78G= XP_011518637.1:n.708-78G=
XM_011520335.2:c.708-78G= XP_011518637.1:n.708-78G=
NM_000360.4:c.696-78G= MANE Select NP_000351.2:n.696-78G=
NM_199292.3:c.789-78G= NP_954986.2:n.789-78G=
NM_199293.3:c.777-78G= NP_954987.2:n.777-78G=